Tag: Genetics
Rare Variants Associated With Interval Breast Cancers
The presence of these variants is also linked to increased risk for death
Results of Pediatric Genomic Epilepsy Tests Often Reclassified
Over 30 percent of pediatric patients with genetic dx, undiagnosed conditions had results reclassified
Genetic Test Helps ID Benign Versus Malignant Thyroid Nodules
ThyroSeq v3 has 94 percent sensitivity, 82 percent specificity for Bethesda III and IV nodules
Polygenic Risk Score Predicts Tx Response in Schizophrenia
PRS significantly predictive of adjusted 12-week symptom scores across four cohorts
Genetic Risk Score IDs Breast CA Risk in Female Child CA Survivors
Survivors in highest quintile of polygenic risk score have increased relative rate of breast cancer
Barriers to Prostate Cancer Research in Black Men Identified
Mistrust, lack of knowledge, unfavorable attitudes are barriers to genomic testing, study participation
Plasma-Based Genotyping Aids Targeted Tx of Metastatic NSCLC
Most patients who received targeted therapy based on plasma result achieved clinical response
Diet Less Important Than Genes for High Serum Urate Levels
Certain foods linked to high or low serum urate levels, but dietary scores have limited contribution
Genomic Screening Can ID Undetected BRCA1/2 Cancer Risk
82 percent of variant carriers identified in exome sequencing had not undergone prior testing
Genetics May Identify Type 2 Diabetes Subtypes
Five clusters of T2DM loci and traits, each with distinct tissue-specific enhancer enrichment, identified
